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ABCC6 expression is regulated by CCAAT/Enhancer binding protein activating a primate-specific sequence located in the first intron of the gene
Pseudoxanthoma elasticum (PXE), a rare recessive genetic disease causing skin, eye and cardiovascular lesions is characterized by the calcification of elastic fibers. The disorder is due to loss-of-function mutations of the ABCC6 gene but the pathophysiology of the disease is still not understood. H...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3509247/ https://ncbi.nlm.nih.gov/pubmed/22763786 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2012.218 |
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